Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Since the early days of mitochondrial medicine, it has been clear that optic atrophy is a very common and sometimes the singular pathological feature in mitochondrial disorders. The first point mutation of mitochondrial DNA (mtDNA) associated with the maternally inherited blinding disorder, Leber's hereditary optic neuropathy (LHON), was recognized in 1988. In 2000, the other blinding disorder, dominant optic atrophy (DOA) Kjer type, was found associated with mutations in the nuclear gene OPA1 that encodes a mitochondrial protein. Besides these two non-syndromic optic neuropathies, optic atrophy is a prominent feature in many other neurodegenerative diseases that are now recognized as due to primary mitochondrial dysfunction. We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3). Thus, genetic errors in both nuclear and mitochondrial genomes often lead to retinal ganglion cell death, a specific target for mitochondrial mediated neurodegeneration. Many mechanisms have been studied and proposed as the bases for the pathogenesis of mitochondrial optic neuropathies including bioenergetic failure, oxidative stress, glutamate toxicity, abnormal mitochondrial dynamics and axonal transport, and susceptibility to apoptosis.
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PMID:Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. 1926 52

The clinical presentation, risk factors, causes, vital or functional prognosis, and acute management options for stroke occurring in neonates and children are specific, differing from those observed in young adults. Compared with the adult population, less is known about the epidemiology of stroke in the under-18 population where the disease could become more frequent because of advances in both neonatal resuscitation techniques for cerebral disorders and neuroimaging techniques enabling the diagnosis of small lesions. Clinical features are often delayed, especially in neonates, and unlike epilepsy or dystonia of the affected limb, which are frequent complications, aphasia is rather rare. The most frequent causes of stroke at the beginning of life are cardiac embolism, for ischemic stroke, and arteriovenous malformations, for intracerebral hemorrhage. Acute management at this age is specific. This article reviews the literature on the epidemiological and clinical features, the main causes, and the acute management guidelines of stroke occurring in newborn infants and children and highlights the need for neurologists to have comprehensive knowledge of this disease.
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PMID:[Stroke in neonates and children]. 1928 14

This review presents a brief account of the most significant biological effects and clinical applications of botulinum neurotoxins, in a way comprehensive even for casual readers who are not familiar with the subject. The most toxic known substances in botulinum neurotoxins are polypeptides naturally synthesized by bacteria of the genus Clostridium. These polypeptides inhibit acetylcholine release at neuromuscular junctions, thus causing muscle paralysis involving both somatic and autonomic innervation. There is substantial evidence that this muscle-paralyzing feature of botulinum neurotoxins is useful for their beneficial influence on more than 50 pathological conditions such as spastic paralysis, cerebral palsy, focal dystonia, essential tremor, headache, incontinence and a variety of cosmetic interventions. Injection of adequate quantities of botulinum toxins in spastic muscles is considered as a highly hopeful procedure for the treatment of people who suffer from dystonia, cerebral palsy or have experienced a stroke. So far, numerous and reliable studies have established the safety and efficacy of botulinum neurotoxins and advocate wider clinical therapeutic and cosmetic applications.
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PMID:Botulinum neurotoxin: the ugly duckling. 1936 25

To study peculiarities of emotional-cognitive assessment of color sensations and sensation descriptors in patients with autonomic dystonia and cerebrovascular diseases, 70 healthy subjects and 113 patients including 27 with autonomic dystonia, 48 - with discirculatory encephalopathy and 38 - with ischemic stroke have been studied in the rehabilitation period. Clinical-neurological examination, assessment of headache intensity on the Visual-Analogous scale, anxiety and depression levels on the Hospital anxiety and depression scale, the level of mental maladaptation on an author's scale as well as a study of emotional-cognitive assessment of color sensations and sensation descriptors have been carried out. Assessments of color sensations were studied using 20 color standards, indices of positive and negative assessment of all groups of colors and colors of certain categories were determined. The relation to sensation descriptors was studied by showing a list of 50 words; indices of positive and negative ratings of different categories of descriptors (% to the total number of words listed) were determined. It has been shown that the system of assessment of color sensations is most substantially changed in patients with autonomic dystonia that appeared in the more negative, compared to healthy people, perception of cold color tones, dark tones and chromatically non-saturated colors. These changes were less represented in patients with cerebrovascular diseases and disappear after stroke. Changes in the system of sensation descriptors rating are evenly expressed in patients with autonomic dystonia and cerebrovascular diseases: patients' ratings of sensation descriptors are more negative compared to healthy people. These changes are related to the increase of anxiety and depression levels and may contribute to mental health problems of patients.
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PMID:[Peculiarities of emotional-cognitive assessment of sensations by patients with neurological diseases]. 1936 85

Since the late 1970s, local injections of BoNT have provided clinical benefit for patients with inappropriately contracting muscles with or without pain or sensory disturbance. Marketing authorization for some BoNTs, depending on country, include core indications of dystonia (blepharospasm and cervical dystonia), large muscle spastic disorders (not yet approved in the United States, e.g., adult post-stroke spasticity and equinus foot deformity), hyperhidrosis and aesthetic. Subsequent development has extended to selected conditions characterized by recurrent or chronic pain (migraine headache), and urologic indications (neurogenic/idiopathic overactive bladder; prostate hyperplasia), with multiple additional opportunities available. Portfolio management requires a careful individual opportunity assessment of scientific and technical aspects (basic science foundation, potential to treat unmet medical need, product-specific risk in specific populations, therapeutic margin/safety profile, and probability of successful registration pathway). This article describes ongoing development targets for BOTOX.
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PMID:Development of future indications for BOTOX. 1947 Mar 42

Constipation and faecal incontinence are common symptoms among patients with spinal cord injury (SCI), myelomeningocoele (MMC), multiple sclerosis (MS), Parkinson's disease (PD) and stroke. Faecal incontinence in SCI, MMC and MS is mainly due to abnormal rectosigmoid compliance and rectoanal reflexes, loss of rectoanal sensibility and loss of voluntary control of the external anal sphincter. Constipation in SCI, MMC and MS is probably due to immobilisation, abnormal colonic contractility, tone and rectoanal reflexes or side effects from medication. In PD, dystonia of the external anal sphincter causes difficult rectal evacuation and the loss of dopaminergic neurons in the enteric nervous system probably causes slow-transit constipation. Changes after stroke remain to be studied. Though dietary adjustments, oral laxatives, suppositories and other conservative treatment modalities are commonly used, evidence for their use in patients with central neurological disorders is scarce. For patients with severe symptoms trans-anal irrigation, the Malone appendicostomy or a colostomy can be recommended.
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PMID:Neurogenic colorectal and pelvic floor dysfunction. 1964 88

Treatment of mitochondrial disorders (MIDs) is a challenge since there is only symptomatic therapy available and since only few randomized and controlled studies have been carried out, which demonstrate an effect of some of the symptomatic or supportive measures available. Symptomatic treatment of MIDs is based on mainstay drugs, blood transfusions, hemodialysis, invasive measures, surgery, dietary measures, and physiotherapy. Drug treatment may be classified as specific (treatment of epilepsy, headache, dementia, dystonia, extrapyramidal symptoms, Parkinson syndrome, stroke-like episodes, or non-neurological manifestations), non-specific (antioxidants, electron donors/acceptors, alternative energy sources, cofactors), or restrictive (avoidance of drugs known to be toxic for mitochondrial functions). Drugs which more frequently than in the general population cause side effects in MID patients include steroids, propofol, statins, fibrates, neuroleptics, and anti-retroviral agents. Invasive measures include implantation of a pacemaker, biventricular pacemaker, or implantable cardioverter defibrillator, or stent therapy. Dietary measures can be offered for diabetes, hyperlipidemia, or epilepsy (ketogenic diet, anaplerotic diet). Treatment should be individualized because of the peculiarities of mitochondrial genetics. Despite limited possibilities, symptomatic treatment should be offered to MID patients, since it can have a significant impact on the course and outcome.
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PMID:Treatment of mitochondrial disorders. 1969 74

Several disorders that involve motor and sensory disturbances such as chronic pain, tinnitus, stroke or dystonia are also characterized by changes in the sensory and motor maps in the sensorimotor cortices. This article reviews training procedures that target these maladaptive changes and the behavioral and cortical changes that accompany them. In addition, we will discuss factors that influence these training procedures and discuss new developments. These procedures include training of perceptual abilities, motor function, direct cortical stimulation as well as behavioral approaches and have been shown to reorganize the altered sensory and motor maps. Treatments that combine several modalities such as imagery or mirror treatment as well as use of prostheses also have beneficial effects. Further research must elucidate the mechanisms of these plastic changes and relate them to disorders and treatments.
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PMID:Sensorimotor training and cortical reorganization. 1971 16

Several techniques that involve transcranial magnetic stimulation (TMS) can be used to measure brain plasticity noninvasively in humans. These include paired-associative stimulation (PAS), repetitive transcranial magnetic stimulation (rTMS) and theta burst stimulation (TBS). Some of these techniques are based the principle of use dependent plasticity or are designed to mimic protocols used to induce long-term potentiation or depression in animal studies. These studies have been applied to certain neurological and psychiatric disorders to investigate their pathophysiology. For example, PAS induced plasticity is enhanced in dystonia and stroke but is reduced in Huntington's disease and schizophrenia. Furthermore, TMS may be used to modulate brain plasticity and has therapeutic potential in neurological and psychiatric disorders such as stroke, Parkinson's disease, dystonia and depression.
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PMID:Measurement and modulation of plasticity of the motor system in humans using transcranial magnetic stimulation. 2001 49

Retrospective analysis included case histories of 182 patients with hypertensive disorders and one or more crises (HC). The aim was to study the relationship between drug therapy and occurrence of HC. As known, clinical diagnosis of hypertensive disorder dictates therapeutic strategy for AH. It was shown that diagnosis of neurocirculary dystonia (asthenia) prevented timely prescription antihypertensive treatment and resulted in HC. Mathematical simulation of anti-AH therapy in the presence of HC allows patients at high risk of stroke to be identified for follow-up and adequate treatment.
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PMID:[Mathematical simulation for the assessment of clinical efficacy of the treatment of hypertensive crisis]. 2013 89


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